Zhao Haiyue, Li Leilei, Liu Ruizhi, Yang Xiao
Reproductive Center and Prenatal Diagnosis Center, the First Hospital of Jilin University, Changchun, Jilin 130021, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):881-883. doi: 10.3760/cma.j.cn511374-20210628-00549.
To report on the clinical characteristics of a family of short-rib polydactyly syndrome type III and its pathogenic variants.
Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family.
The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance.
The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband.
报告一个III型短肋多指综合征家系的临床特征及其致病变异。
引产第三个胎儿后采集其肌肉样本，并采集其父母及祖父母的外周血样本。对该家系进行全外显子组测序（WES）。通过对家系进行Sanger测序验证候选变异。
先证者被发现携带DYNC2H1基因的c.9819+1G>A变异和c.4625C>A变异，分别遗传自其母亲和父亲。Sanger测序验证该家系符合常染色体隐性遗传。
DYNC2H1基因的c.9819+1G>A和c.4625C>A变异可能是先证者III型短肋多指综合征的病因。
